DisGeNET - a database of gene-disease associations

Source: BEFREE

Disease: Retinopathy of Prematurity ×

Variant: rs397507444 ×

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs397507444

MTHFR

CUI:	C0035344
Disease:	Retinopathy of Prematurity

Retinopathy of Prematurity

0.010

GeneticVariation

BEFREE

Evaluation of Factor V Leiden, Prothrombin G20210A, MTHFR C677T and MTHFR A1298C gene polymorphisms in retinopathy of prematurity in a Turkish cohort.

27018927

2016